rs587777094
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777094(C;T) |
Make rs587777094(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 128634258 |
Gene | WDR34 |
is a | snp |
is | mentioned by |
dbSNP | rs587777094 |
dbSNP (classic) | rs587777094 |
ClinGen | rs587777094 |
ebi | rs587777094 |
HLI | rs587777094 |
Exac | rs587777094 |
Gnomad | rs587777094 |
Varsome | rs587777094 |
LitVar | rs587777094 |
Map | rs587777094 |
PheGenI | rs587777094 |
Biobank | rs587777094 |
1000 genomes | rs587777094 |
hgdp | rs587777094 |
ensembl | rs587777094 |
geneview | rs587777094 |
scholar | rs587777094 |
rs587777094 | |
pharmgkb | rs587777094 |
gwascentral | rs587777094 |
openSNP | rs587777094 |
23andMe | rs587777094 |
SNPshot | rs587777094 |
SNPdbe | rs587777094 |
MSV3d | rs587777094 |
GWAS Ctlg | rs587777094 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777094(G;G) rs587777094(T;T) |
Alt | rs587777094(G;G) rs587777094(T;T) |
Reference | Rs587777094(C;C) |
Significance | Pathogenic |
Disease | Short-rib thoracic dysplasia 11 with or without polydactyly |
Variation | info |
Gene | WDR34 |
CLNDBN | Short-rib thoracic dysplasia 11 with or without polydactyly |
Reversed | 0 |
HGVS | NC_000009.11:g.131396537C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000083286.4, |